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Summary
MUCOPOLYSACCHARIDOSIS III SAN FILIPPO D SYNDROME
MPS3D
252940
OMIM = Online Medalian Inheritance of Men
79272
12q14.3
rare (1:70000, all types)
autosomal recessive
Types A, B, C, D
type A is the most severe form
symptoms
behavior, hyperactive, restless
blindness, visual loss, visual impairment
coarse facial features
contractures, joints
diarrhea
dysarthria
dysostosis multiplex
dysphagia
hearing defect, deafness
heart failure
hepatomegaly (large liver)
hypertrichosis
infections (severe or recurrent)
inguinal hernia
joint stiffness
lethargy, drowsiness, malaise or sleep disorder
mental retardation
onset, adolescent
onset, childhood
progressive neurologic defect
splenomegaly (large spleen)
swallowing difficulties
X-ray, abnormalities
laboratory finding
Heparan sulfate0.000.00 increasedurineno data
N-Acetylglucosamine-6-sulfate sulfatase decreased activityfibroblasts
Mucopolysaccharides0.000.00 increasedurineno data
Glycosaminoglycans, total increasedurine
Literature
Debnath S,Addya SIn-silico modelling of SERAC1: Protein involved in a developmental neural disorder MEGDEL syndrome characterized by 3-methyl glutaconic aciduria type IV with sensory-neural deafness, encephalopathy and Leigh-like syndrome.Int J Dev Neurosci4701-22015
Pierpont MEet al.Familial carnitine transporter defect: A treatable cause of cardomyopathy in childrenAm Heart J1390S96-1062000
Rodr+-íguez-Garc+-ía ME,et al.First missense mutation outside of SERAC1 lipase domain affecting intracellular cholesterol traffickingNeurogenetics002015
Witsch-Baumgartner Met al.Mutational spectrum in the delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndromeAm J Hum Genet660402-4122000
Wortmann SB,et al.MEGDEL Syndrome.Source GeneReviews--½ InternetSource GeneReviews--½ Internet002014
Lumish HS,et al.The Expanding MEGDEL Phenotype: Optic Nerve Atrophy, Microcephaly, and Myoclonic Epilepsy in a Child with SERAC1 MutationsJIMD Rep16075-792014
Sinasac DSet al.Genomic structure of the adult-onset type II citrullinemia gene, SLC25A13, and cloning and expression of its mouse homologueGenomics622289-2921999
Nezu Jet al.Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporterNat Genet21191-941999
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994